CARDIOFACIOCUTANEOUS SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615279
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008050) Abnormality of the palpebral fissures 3 / 7739
2
 (HPO:0000154) Wide mouth 137 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0004349) Reduced bone mineral density 165 / 7739
7
 (HPO:0000767) Pectus excavatum 244 / 7739
8
 (HPO:0002650) Scoliosis 705 / 7739
9
 (HPO:0001508) Failure to thrive 454 / 7739
10
 (HPO:0000975) Hyperhidrosis 64 / 7739
11
 (HPO:0002212) Curly hair 21 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
13
 (HPO:0001642) Pulmonic stenosis 89 / 7739
14
 (HPO:0002046) Heat intolerance 13 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0040180) Hyperkeratosis pilaris 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: